Background

In 1724, Hermann Boerhaave, a Dutch physician and professor of clinical medicine, first described spontaneous rupture of the esophagus, which typically occurs after forceful emesis. Boerhaave syndrome, a transmural perforation of the esophagus, should be distinguished from Mallory-Weiss syndrome, a nontransmural esophageal tear that is also associated with vomiting. Because it is often associated with emesis, Boerhaave syndrome usually is not truly spontaneous. However, the term is useful for distinguishing it from iatrogenic perforation, which accounts for 85-90% of cases of esophageal rupture.

Diagnosis of Boerhaave syndrome can be difficult, because often no classic symptoms are present and delays in presentation for medical care are common.
[1] Although Boerhaave syndrome classically presents as the Mackler triad of chest pain, vomiting, and subcutaneous emphysema due to esophageal rupture, these symptoms are not always present. In fact, approximately one third of all cases of Boerhaave syndrome are clinically atypical. Nonetheless, prompt recognition of this potentially lethal condition is vital to ensure appropriate treatment.
[1] Mediastinitis, sepsis, and shock are frequently seen late in the course of the illness, which further confuses the diagnostic picture.

A reported mortality estimate is approximately 35-40%,
[1] making it the most lethal perforation of the gastrointestinal tract. The best outcomes are associated with early diagnosis and definitive surgical management within 12 hours of rupture. If intervention is delayed longer than 24 hours, mortality (even with surgical intervention) rises to higher than 50%, and to nearly 90% after 48 hours. Left untreated, mortality is close to 100%.

Pathophysiology

Esophageal rupture in Boerhaave syndrome is postulated to be the result of a sudden rise in intraluminal esophageal pressure produced during vomiting, caused by neuromuscular incoordination leading to failure of the cricopharyngeus muscle to relax. The syndrome is commonly associated with overindulgence in food and/or alcohol.

The most common anatomic location of the tear in Boerhaave syndrome is at the left posterolateral wall of the lower third of the esophagus, 2-3 cm proximal to the gastroesophageal junction, along the longitudinal wall of the esophagus. The second most common site of rupture is in the subdiaphragmatic or upper thoracic area.
[2, 3] Intrathoracic esophageal perforation can lead to the development of chemical mediastinitis from the gastric contents contaminating the mediastinal cavity. This can subsequently lead to mediastinal necrosis and bacterial infection.

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Etiology

Boerhaave syndrome is a barogenic injury resulting from a sharp increase in the intraluminal pressure against a closed cricopharyngeus.

Perforation typically occurs at the weakest point in the esophagus, usually in the left lower esophagus below the diaphragm in adults, whereas in very young patients, the perforation is usually into the right pleural cavity.

Alcoholism and overindulgence in food and drink are primary risk factors. Both can lead to emesis, which is a major component of the classic presentation. Other reported but less likely causes of Boerhaave syndrome include caustic ingestion, childbirth, seizures, weightlifting, trauma, and medical instrumentation. A portion of these patients may have underlying peptic ulcer disease, eosinophilic esophagitis, medication-induced esophagitis, or Barrett esophagus.

No genetic predilection is apparent.

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Epidemiology

International data

Although it is likely underreported, the incidence of Boerhaave syndrome is relatively rare, with an estimated incidence of 3.1 per 1,000,000 persons per year.
[4] Among esophageal perforations, aproximately 15% are spontaneous perforations, and the majority of these are iatrogenic in nature.
[5] A 1980 review by Kish and Katske cited 300 cases in the literature worldwide.
[6] A 1986 summary by Bladergroen et al described 127 cases; of these, 114 were diagnosed antemortem, and the others were diagnosed at autopsy.
[7] Overall, Boerhaave syndrome accounts for 15% of all cases of traumatic rupture or perforation of the esophagus.

Race-, sex-, and age-related demographics

Cases of Boerhaave syndrome have been reported in all races and on virtually every continent, affecting males more commonly than females, with male-to-female ratios ranging from 2:1 to 5:1.

Boerhaave syndrome is seen most frequently among patients aged 50-70 years. Reports suggest that 80% of all patients are middle-aged men. However, this condition has also been described in neonates and in persons older than 90 years. Although no clear explanation exists for this, the least susceptible age group appears to be children aged 1-17 years.

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Prognosis

The prognosis of Boerhaave syndrome is directly contingent on its early recognition and appropriate intervention.
[1] Early diagnosis allows prompt surgical repair. Diagnosis and surgery within 24 hours carries a 75% survival rate but drops to approximately 50% after a 24-hour delay and approximately 10% after 48 hours.

Morbidity/mortality

Morbidity and mortality are high. Esophageal perforation is the most lethal perforation of the gastrointestinal tract. Early recognition and appropriate surgical intervention are essential for survival.

Overall, the mortality rate is approximately 30%. Mortality is usually due to subsequent infection, including mediastinitis, pneumonitis, pericarditis, or empyema.

As noted earlier, patients who undergo surgical repair within 24 hours of injury have a 70-75% chance of survival. This falls to 35-50% if surgery is delayed longer than 24 hours and to approximately 10% if delayed longer than 48 hours. Therefore, early diagnosis and intervention of esophageal perforation significantly reduces mortality.

Cases of patients surviving without surgery exist but are rare enough to warrant case reports in the medical literature.

Complications

Esophageal rupture may lead to the development of septicemia, pneumomediastinum, mediastinitis, massive pleural effusion, empyema, pneumomediastinum, or subcutaneous emphysema.

If the esophageal rupture extends directly into the pleura, hydropneumothorax is expected. In adults, this occurs more commonly on the left side of the pleura. In neonates, esophageal rupture usually occurs on the right side.

After esophageal rupture, free air enters the mediastinum and also may spread to the adjacent structures, resulting in mediastinal abscess or superimposed secondary infection.